ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q37.1(chr2:234401465-235250353)x1
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
SPP2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
182 | 227 | |
DNAJB3 | - | - | - |
GRCh38 GRCh37 |
- | 47 |
HJURP | - | - |
GRCh38 GRCh37 |
58 | 100 | |
MROH2A | - | - | - |
GRCh38 GRCh37 |
7 | 49 |
TRPM8 | - | - |
GRCh38 GRCh37 |
67 | 111 | |
UGT1A1 | - | - |
GRCh38 GRCh37 |
1 | 352 | |
UGT1A10 | - | - |
GRCh38 GRCh37 |
- | 555 | |
UGT1A3 | - | - |
GRCh38 GRCh37 |
- | 375 | |
UGT1A4 | - | - |
GRCh38 GRCh37 |
- | 400 | |
UGT1A5 | - | - |
GRCh38 GRCh37 |
- | 418 |
There are 5 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 22, 2014 | RCV000510939.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024